Ataxia-telangiectasia : epidemiological survey in latin america

Ataxia-telangiectasia (AT) is a rare neurodegenerative disorder characterized by ataxia, telangiectasia, and immunodeficiency. We aimed to evaluate the multisystem involvement in AT by describing clinical features and outcomes of Latin American (LA) patients. cross-sectional and multicenter study. Referral centers from all over LA filled in a questionnaire with clinical and laboratory data based on patients’ records. 228 patients from 10 LA countries were evaluated. Mean ages at the time of symptom onset and diagnosis were 1.63±1.09 and 5.66±3.48 years, respectively. The most common immunodeficiency was IgA deficiency (60.8%), followed by IgG deficiency (28.6%). IgA and IgM showed a tendency to decrease as the patient grew older (p=0.001 and 0.048). IgA deficiency was associated with recurrent airway infections (p=0.038). 120 (79,5%) patients presented with low CD3+CD4+ count and 115 (92%) with low CD19+ count. Regarding nutritional status, as patients grow older there is an increase in severe thinness (p=0.016). Median survival was 23 years and Kaplan-Meier 20-year-survival rate was 52,6%. IgG deficiency and female gender were associated with a decrease in estimated survival function (p=0.02 and 0.049). There is a high prevalence of laboratory immunologic abnormalities and recurrent infections in AT patients. Knowledge of specific regional characteristics and variables which can be related with survival allows for suitable patient follow-up and may increase quality of life143

Doctors' awareness concerning primary immunodeficiencies in Brazil

Background: PIDs are a heterogeneous group of genetic illnesses, and delay in their diagnosis is thought to be caused by a lack of awareness among physicians concerning PIDs. the latter is what we aimed to evaluate in Brazil.Methods: Physicians working at general hospitals all over the country were asked to complete a 14-item questionnaire. One of the questions described 25 clinical situations that could be associated with PIDs and a score was created based on percentages of appropriate answers.Results: A total of 4026 physicians participated in the study: 1628 paediatricians (40.4%), 1436 clinicians (35.7%), and 962 surgeons (23.9%). About 67% of the physicians had learned about PIDs in medical school or residency training, 84.6% evaluated patients who frequently took antibiotics, but only 40.3% of them participated in the immunological evaluation of these patients. Seventy-seven percent of the participating physicians were not familiar with the warning signs for PIDs. the mean score of correct answers for the 25 clinical situations was 48.08% (+/- 16.06). Only 18.3% of the paediatricians, 7.4% of the clinicians, and 5.8% of the surgeons answered at least 2/3 of these situations appropriately.Conclusions: There is a lack of medical awareness concerning PIDs, even among paediatricians, who have been targeted with PID educational programmes in recent years in Brazil. An increase in awareness with regard to these disorders within the medical community is an important step towards improving recognition and treatment of PIDs. (C) 2014 SEICAP. Published by Elsevier Espana, S.L.U. All rights reserved.Jeffrey Modell FoundationBrazilian Jeffrey Modell CentreUniversidade Federal de São Paulo, São Paulo, BrazilUniv Fed Pernambuco, Recife, PE, BrazilUniv Hosp, Brasilia, DF, BrazilChildrens Hosp, Brasilia, DF, BrazilAlbert Sabin Childrens Hosp, Fortaleza, Ceara, BrazilUniv Estadual Montes Claros, Montes Claros, BrazilUniv Fed Parana, BR-80060000 Curitiba, Parana, BrazilUniv São Paulo, Fac Med Ribeirao Preto, BR-14049 Ribeirao Preto, BrazilFac Med Sao Jose Rio Preto, Sao Jose Do Rio Preto, BrazilUniv Hosp Sao Vicente Paulo, Passo Fundo, BrazilJoana Gusmao Childrens Hosp, Florianopolis, SC, BrazilUniv Hosp Muller, Fac Med, Cuiaba, BrazilUniv Fed Mato Grosso, Cuiaba, BrazilNipo Brasileiro Hosp, São Paulo, BrazilHosp lsraelita Albert Einstein, São Paulo, BrazilUniv Fed Rio Grande do Norte, Natal, RN, BrazilUniv Fed Uberlandia, BR-38400 Uberlandia, MG, BrazilUniv Fed Bahia, Complexo Hosp Univ Prof Edgar Santos, Salvador, BA, BrazilUniv Estadual Piaui, Teresina, BrazilABC, Fac Med, Santo Andre, BrazilUniv Fed Minas Gerais, Belo Horizonte, MG, BrazilUniv Ctr Para, Belem, Para, BrazilMed Course Lusiada Univ Ctr UNILUS, Dept Pediat, Santos, BrazilUniv Fed Sergipe, Aracaju, BrazilHosp Servidor Publ Municipal, São Paulo, BrazilUniv São Paulo, Inst Biomed Sci, BR-05508 São Paulo, BrazilUniv Estadual Campinas, Sch Med, Dept Pediat, Campinas, BrazilPrivate Off, Macapa, BrazilHosp Ministro Costa Cavalcanti, Foz Do Iguacu, BrazilChildrens Hosp Cosme & Damitio, Rondonia, BrazilUniv Fed Rio de Janeiro, Rio de Janeiro, BrazilUniversidade Federal de São Paulo, São Paulo, BrazilWeb of Scienc